Linked Data
ClinVar Variation Id:
663694
dbSNP Id:
rs760976198
ExAC:
13:100920984 AAG / A
gnomAD v2:
13-100920984-AAG-A
gnomAD v3:
13-100268730-AAG-A
gnomAD v4:
13-100268730-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100268735_100268736del , CM000675.2:g.100268735_100268736del | GRCh38 |
| NC_000013.10:g.100920989_100920990del , CM000675.1:g.100920989_100920990del | GRCh37 |
| NC_000013.9:g.99718990_99718991del | NCBI36 |
| NG_008768.1:g.184653_184654del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376285.6:c.866_867del MANE Select | ENSP00000365462.1:p.Glu289ValfsTer? | |
| ENST00000636366.1:c.745_746del | ||
| ENST00000636420.1:c.745_746del | ||
| ENST00000636475.1:c.745_746del | ||
| ENST00000637657.1:c.745_746del | ||
| ENST00000647303.1:c.*714_*715del | ENSP00000495663.1:n.*714_*715del | |
| ENST00000376279.7:c.866_867del | ENSP00000365456.3:p.Glu289ValfsTer? | |
| ENST00000376285.5:c.866_867del | ENSP00000365462.1:p.Glu289ValfsTer? | |
| ENST00000376286.8:c.788_789del | ENSP00000365463.4:p.Glu263ValfsTer? | |
| NM_000282.3:c.866_867del | NP_000273.2:p.Glu289ValfsTer? | |
| NM_001127692.2:c.788_789del | NP_001121164.1:p.Glu263ValfsTer? | |
| NM_001178004.1:c.866_867del | NP_001171475.1:p.Glu289ValfsTer? | |
| XM_005254059.2:c.866_867del | XP_005254116.1:p.Glu289ValfsTer? | |
| XM_011521093.1:c.866_867del | XP_011519395.1:p.Glu289ValfsTer? | |
| XR_931615.1:n.967_968del | ||
| XR_931616.1:n.967_968del | ||
| NM_001352605.1:c.866_867del | NP_001339534.1:p.Glu289ValfsTer? | |
| NM_001352606.1:c.866_867del | NP_001339535.1:p.Glu289ValfsTer? | |
| NM_001352607.1:c.788_789del | NP_001339536.1:p.Glu263ValfsTer? | |
| NM_001352608.1:c.788_789del | NP_001339537.1:p.Glu263ValfsTer? | |
| NM_001352609.1:c.866_867del | NP_001339538.1:p.Glu289ValfsTer? | |
| NM_001352610.1:c.-80_-79del | NP_001339539.1:n.-80_-79del | |
| NM_001352611.1:c.-80_-79del | NP_001339540.1:n.-80_-79del | |
| NM_001352612.1:c.-80_-79del | NP_001339541.1:n.-80_-79del | |
| NR_148027.1:n.972_973del | ||
| NR_148028.1:n.972_973del | ||
| NR_148029.1:n.894_895del | ||
| NR_148030.1:n.972_973del | ||
| NR_148031.1:n.972_973del | ||
| XM_017020605.1:c.866_867del | XP_016876094.1:p.Glu289ValfsTer? | |
| XM_017020606.1:c.788_789del | XP_016876095.1:p.Glu263ValfsTer? | |
| XM_017020607.1:c.767_768del | XP_016876096.1:p.Glu256ValfsTer? | |
| XM_017020609.1:c.767_768del | XP_016876098.1:p.Glu256ValfsTer? | |
| XM_017020611.1:c.866_867del | XP_016876100.1:p.Glu289ValfsTer? | |
| XM_017020612.1:c.866_867del | XP_016876101.1:p.Glu289ValfsTer? | |
| XM_017020613.1:c.866_867del | XP_016876102.1:p.Glu289ValfsTer? | |
| XM_017020615.1:c.866_867del | XP_016876104.1:p.Glu289ValfsTer? | |
| XM_017020616.1:c.866_867del | XP_016876105.1:p.Glu289ValfsTer? | |
| XR_001749567.1:n.967_968del | ||
| XR_001749568.1:n.967_968del | ||
| XR_001749569.1:n.967_968del | ||
| XR_001749574.1:n.818_819del | ||
| XR_001749576.1:n.967_968del | ||
| XR_001749577.1:n.967_968del | ||
| NM_000282.4:c.866_867del MANE Select | NP_000273.2:p.Glu289ValfsTer? | |
| NM_001352605.2:c.866_867del | NP_001339534.1:p.Glu289ValfsTer? | |
| NM_001352606.2:c.866_867del | NP_001339535.1:p.Glu289ValfsTer? | |
| NM_001352607.2:c.788_789del | NP_001339536.1:p.Glu263ValfsTer? | |
| NM_001352608.2:c.788_789del | NP_001339537.1:p.Glu263ValfsTer? | |
| NM_001352609.2:c.866_867del | NP_001339538.1:p.Glu289ValfsTer? | |
| NM_001352610.2:c.-80_-79del | NP_001339539.1:n.-80_-79del | |
| NM_001352611.2:c.-80_-79del | NP_001339540.1:n.-80_-79del | |
| NM_001352612.2:c.-80_-79del | NP_001339541.1:n.-80_-79del | |
| NR_148027.2:n.894_895del | ||
| NR_148028.2:n.894_895del | ||
| NR_148029.2:n.816_817del | ||
| NR_148030.2:n.894_895del | ||
| NR_148031.2:n.894_895del | ||
| NM_001127692.3:c.788_789del | NP_001121164.1:p.Glu263ValfsTer? | |
| NM_001178004.2:c.866_867del | NP_001171475.1:p.Glu289ValfsTer? |